A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701422



Internal ID21727743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:93518768..93518768hg38UCSC Ensembl
chr11:93251934..93251934hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191819, nssv17225504
Samples
Known GenesSMCO4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5701422
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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